Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing

Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic genes have been confirmed to cause RP. The predominant mo...

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Detalles Bibliográficos
Autores principales: Fu, Yue-Chuan, Chen, Na, Qiu, Zi-Long, Liu, Lin, Shen, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236299/
https://www.ncbi.nlm.nih.gov/pubmed/30280194
http://dx.doi.org/10.3892/mmr.2018.9530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236299/
https://www.ncbi.nlm.nih.gov/pubmed/30280194
http://dx.doi.org/10.3892/mmr.2018.9530

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